Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis


SILAN F. , Karakaya T. , Bir F. D. , Paksoy B., ÖZDEMİR Ö.

European Biotechnology Congress, Athens, Greece, 26 - 28 April 2018, vol.280 identifier